Revel Score:
ENST00000232975 (MANE Select)
0.731
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000889 (NFE)
Exomes Max Group AF
0.00000864 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52453993G>A , CM000665.2:g.52453993G>A | GRCh38 |
| NC_000003.11:g.52488009G>A , CM000665.1:g.52488009G>A | GRCh37 |
| NC_000003.10:g.52463049G>A | NCBI36 |
| NG_008963.1:g.5049C>T , LRG_378:g.5049C>T | |
| NG_033112.1:g.3486G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.23C>T MANE Select | ENSP00000232975.3:p.Ala8Val | |
| ENST00000232975.7:c.23C>T | ENSP00000232975.3:p.Ala8Val | |
| NM_003280.2:c.23C>T , LRG_378t1:c.23C>T | NP_003271.1:p.Ala8Val | |
| NM_003280.3:c.23C>T MANE Select | NP_003271.1:p.Ala8Val |